Incidental Mutation 'R0528:Hcfc2'
ID 49009
Institutional Source Beutler Lab
Gene Symbol Hcfc2
Ensembl Gene ENSMUSG00000020246
Gene Name host cell factor C2
Synonyms 1700129L13Rik, fkls
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R0528 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 82531994-82578262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82575079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 246 (T246K)
Ref Sequence ENSEMBL: ENSMUSP00000124489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020478] [ENSMUST00000160681]
AlphaFold Q9D968
Predicted Effect probably damaging
Transcript: ENSMUST00000020478
AA Change: T706K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: T706K

DomainStartEndE-ValueType
Pfam:Kelch_1 22 60 2.1e-6 PFAM
Pfam:Kelch_5 68 106 1.1e-6 PFAM
Pfam:Kelch_3 81 135 8.8e-7 PFAM
Pfam:Kelch_5 186 230 8.4e-7 PFAM
Pfam:Kelch_3 206 253 1.6e-11 PFAM
Pfam:Kelch_1 244 302 7.5e-9 PFAM
Pfam:Kelch_3 254 323 3.4e-7 PFAM
Pfam:Kelch_5 312 356 1.4e-6 PFAM
FN3 357 591 8.43e-9 SMART
FN3 607 703 6.06e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160681
AA Change: T246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124489
Gene: ENSMUSG00000020246
AA Change: T246K

DomainStartEndE-ValueType
FN3 52 131 1.22e1 SMART
FN3 147 243 6.06e-1 SMART
Meta Mutation Damage Score 0.3314 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null or severely hypomorphic allele exhibit reduced poly(I:C)-mediated TLR3 signaling and increased mortality following viral infection. [provided by MGI curators]
Allele List at MGI

none known

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign Het
Other mutations in Hcfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Hcfc2 APN 10 82,577,112 (GRCm39) splice site probably null
IGL01799:Hcfc2 APN 10 82,536,825 (GRCm39) missense probably damaging 1.00
IGL01916:Hcfc2 APN 10 82,570,217 (GRCm39) missense possibly damaging 0.94
IGL02150:Hcfc2 APN 10 82,545,852 (GRCm39) missense probably damaging 1.00
IGL02378:Hcfc2 APN 10 82,544,905 (GRCm39) missense possibly damaging 0.64
IGL02580:Hcfc2 APN 10 82,564,256 (GRCm39) missense probably benign 0.00
IGL02641:Hcfc2 APN 10 82,538,383 (GRCm39) missense probably damaging 1.00
Backstabbing UTSW 10 82,547,659 (GRCm39) splice site probably null
feckless UTSW 10 82,547,895 (GRCm39) missense probably damaging 1.00
Minions UTSW 10 82,575,079 (GRCm39) missense probably damaging 1.00
scaffold UTSW 10 82,574,242 (GRCm39) missense probably damaging 1.00
R0380:Hcfc2 UTSW 10 82,564,272 (GRCm39) splice site probably benign
R0534:Hcfc2 UTSW 10 82,574,242 (GRCm39) missense probably damaging 1.00
R1646:Hcfc2 UTSW 10 82,536,861 (GRCm39) missense probably damaging 1.00
R1903:Hcfc2 UTSW 10 82,538,392 (GRCm39) missense probably damaging 0.98
R1939:Hcfc2 UTSW 10 82,538,284 (GRCm39) missense probably damaging 0.99
R2014:Hcfc2 UTSW 10 82,574,814 (GRCm39) missense probably benign 0.23
R2015:Hcfc2 UTSW 10 82,574,814 (GRCm39) missense probably benign 0.23
R2571:Hcfc2 UTSW 10 82,544,857 (GRCm39) missense probably damaging 1.00
R4540:Hcfc2 UTSW 10 82,568,481 (GRCm39) missense probably benign 0.10
R4694:Hcfc2 UTSW 10 82,559,534 (GRCm39) missense probably damaging 1.00
R4735:Hcfc2 UTSW 10 82,547,914 (GRCm39) missense probably damaging 1.00
R4833:Hcfc2 UTSW 10 82,544,980 (GRCm39) missense probably null 0.01
R6837:Hcfc2 UTSW 10 82,575,030 (GRCm39) missense probably damaging 0.96
R7268:Hcfc2 UTSW 10 82,544,846 (GRCm39) nonsense probably null
R7683:Hcfc2 UTSW 10 82,535,063 (GRCm39) missense probably benign 0.00
R7733:Hcfc2 UTSW 10 82,575,013 (GRCm39) missense probably benign 0.00
R7742:Hcfc2 UTSW 10 82,547,659 (GRCm39) splice site probably null
R8319:Hcfc2 UTSW 10 82,574,201 (GRCm39) missense probably damaging 0.98
R8829:Hcfc2 UTSW 10 82,574,179 (GRCm39) missense probably damaging 1.00
R8989:Hcfc2 UTSW 10 82,536,822 (GRCm39) missense probably damaging 1.00
R9189:Hcfc2 UTSW 10 82,535,041 (GRCm39) missense probably benign 0.06
R9241:Hcfc2 UTSW 10 82,568,485 (GRCm39) missense probably benign
R9362:Hcfc2 UTSW 10 82,574,258 (GRCm39) missense probably damaging 1.00
R9363:Hcfc2 UTSW 10 82,574,258 (GRCm39) missense probably damaging 1.00
R9386:Hcfc2 UTSW 10 82,574,937 (GRCm39) missense probably damaging 1.00
R9701:Hcfc2 UTSW 10 82,574,269 (GRCm39) nonsense probably null
R9802:Hcfc2 UTSW 10 82,574,269 (GRCm39) nonsense probably null
V3553:Hcfc2 UTSW 10 82,547,895 (GRCm39) missense probably damaging 1.00
X0022:Hcfc2 UTSW 10 82,545,801 (GRCm39) missense probably damaging 0.99
Z1176:Hcfc2 UTSW 10 82,535,006 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TACTTGGCTATCCGCACAGCAC -3'
(R):5'- AAAGGGGCAATACACCTTACGGC -3'

Posted On 2013-06-12